OpenURL Connection Search - EBSCO

Connecting you to content on EBSCOhost

Select item for more details and to access through your institution.

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
Published in:
2019
By:
- Blackburn, Patrick R;
- Sullivan, Adrienne E;
- Gerassimou, Alexis G;
- Kleinendorst, Lotte;
- Bersten, David C;
- Cooiman, Mellody;
- Harris, Kimberly G;
- Wierenga, Klaas J;
- Klee, Eric W;
- van Gerpen, Jay A;
- Ross, Owen A;
- van Haelst, Mieke M;
- Whitelaw, Murray L;
- Caulfield, Thomas R;
- Atwal, Paldeep S
Publication type:
journal article
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
Published in:
BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0354-7
By:
- Blackburn, Patrick R.;
- Zimmermann, Michael T.;
- Gass, Jennifer M.;
- Harris, Kimberly G.;
- Cousin, Margot A.;
- Boczek, Nicole J.;
- Ross, Owen A.;
- Klee, Eric W.;
- Brazis, Paul W.;
- Van Gerpen, Jay A.;
- Atwal, Paldeep S.
Publication type:
Article